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Neslihan Doğulu
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Journal Articles

Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies

Free
Subject Area:
Genetics
Neslihan Doğulu, Engin Köse, Serdar Ceylaner, Çiğdem Seher Kasapkara, Ayşe Ergul Bozaci, Ummuhan Oncul, Fatma Tuba Eminoğlu
Journal: Molecular Syndromology
Mol Syndromol (2024) 15 (6): 450–463.
https://doi.org/10.1159/000539034
Published Online: 17 June 2024
View articletitled, Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies
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Journal Articles

A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3

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Subject Area:
Karger e-Journal Backfile Collection 2023 , Endocrinology , Further Areas , Genetics , Women's and Children's Health
Engin Demir, Neslihan Doğulu, Ceyda Tuna Kırsaçlıoğlu, Vehap Topçu, Fatma Tuba Eminoglu, Zarife Kuloğlu, Aydan Kansu
Journal: Molecular Syndromology
Mol Syndromol (2023) 14 (2): 136–142.
https://doi.org/10.1159/000526393
Published Online: 20 April 2023
View articletitled, A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3
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Journal Articles

Co-Occurring Atypical Galactosemia and Wilson Disease

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Neslihan Doğulu, Engin Kose, Ceyda Tuna Kirsaçlioğlu, Fatih S. Ezgü, Zarife Kuloğlu, Aydan Kansu, Fatma T. Eminoglu
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (5): 454–458.
https://doi.org/10.1159/000524004
Published Online: 07 December 2022
View articletitled, Co-Occurring Atypical Galactosemia and Wilson Disease
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Journal Articles

An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment

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Subject Area:
Endocrinology , Further Areas , Genetics , Women's and Children's Health
Merve Koç Yekedüz, Neslihan Doğulu, Ümmühan Öncül, Engin Köse, Serdar Ceylaner, Fatma Tuba Eminoğlu
Journal: Molecular Syndromology
Mol Syndromol (2022) 13 (2): 146–151.
https://doi.org/10.1159/000518825
Published Online: 25 October 2021
View articletitled, An Atypical Presentation of Mevalonate Kinase Deficiency in Response to Colchicine Treatment
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